Canonical Allele Identifier: CA456481744

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1159593
• ClinVar RCV Id: RCV001503397 ; RCV003966032
• dbSNP Id: rs2116110796
• MyVariant Identifiers: chr7:g.92126044A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496730A>C , CM000669.2:g.92496730A>C	GRCh38
NC_000007.13:g.92126044A>C , CM000669.1:g.92126044A>C	GRCh37
NC_000007.12:g.91963980A>C	NCBI36
NG_008341.1:g.36802T>G
NG_008341.2:g.36802T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2766T>G MANE Select	ENSP00000248633.4:p.Val922=
ENST00000248633.8:c.2766T>G	ENSP00000248633.4:p.Val922=
ENST00000428214.5:c.2595T>G	ENSP00000394413.1:p.Val865=
ENST00000438045.5:c.1800T>G	ENSP00000410438.1:p.Val600=
ENST00000484913.5:n.2805T>G
ENST00000496420.5:n.2658T>G
NM_000466.2:c.2766T>G	NP_000457.1:p.Val922=
NM_001282677.1:c.2595T>G	NP_001269606.1:p.Val865=
NM_001282678.1:c.2142T>G	NP_001269607.1:p.Val714=
XM_005250433.3:c.1017T>G	XP_005250490.1:p.Val339=
XR_242246.3:n.2862T>G
XM_017012319.2:c.1017T>G	XP_016867808.1:p.Val339=
XR_001744808.2:n.1793T>G
XR_242246.5:n.2813T>G
NM_000466.3:c.2766T>G MANE Select	NP_000457.1:p.Val922=
NM_001282677.2:c.2595T>G	NP_001269606.1:p.Val865=
NM_001282678.2:c.2142T>G	NP_001269607.1:p.Val714=